Rapid amplification of prions from variant Creutzfeldt-Jakob disease cerebrospinal fluid.
Rapid amplification of prions from variant Creutzfeldt-Jakob disease cerebrospinal fluid.
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DOI：
10.1002/cjp2.90
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发表时间：
2018-04
期刊：
影响因子：
--
通讯作者：
Head MW
中科院分区：
文献类型：
--
作者：
Barria MA;Lee A;Green AJ;Knight R;Head MW
人类朊病毒疾病是一组与朊病毒蛋白质错误折叠相关的传染性且总是致命的神经退行性疾病。变异型克雅氏病（vCJD）是一种人畜共患朊病毒病，与经口暴露于引起牛海绵状脑病（BSE）的感染因子有关。最新确诊的vCJD病例在朊病毒蛋白基因PRNP的多态性密码子129处为杂合（MV），而之前接受遗传分析的所有177例确诊或可能的vCJD病例均为甲硫氨酸纯合（MM）。对淋巴网状组织进行的回顾性患病率研究表明，英国无症状vCJD携带者的数量可能约为1/2000人。此外，已知有4例通过输血传播vCJD感染的病例。出于这些原因，目前需要一种灵敏、可靠和快速的诊断测试。我们描述了一种快速和高灵敏度的接种转化试验，该试验在扩增48-96 h后检测vCJD患者脑和脑脊液中的疾病相关朊蛋白，灵敏度和特异性均为100%。这种方法可以扩增来自MM或MV患者的明确、可能和可能vCJD病例的PRNP密码子129的朊病毒。
Human prion diseases constitute a group of infectious and invariably fatal neurodegenerative disorders associated with misfolding of the prion protein. Variant Creutzfeldt–Jakob disease (vCJD) is a zoonotic prion disease linked to oral exposure to the infectious agent that causes bovine spongiform encephalopathy (BSE) in cattle. The most recent case of definite vCJD was heterozygous (MV) at polymorphic codon 129 of the prion protein gene PRNP while all of the previous 177 definite or probable vCJD cases who underwent genetic analysis were methionine homozygous (MM). Retrospective prevalence studies conducted on lympho‐reticular tissue suggest that the number of asymptomatic vCJD carriers in the United Kingdom might be around 1 in 2000 people. In addition, there have been four known cases of the transmission of vCJD infection via blood transfusion. For these reasons, a sensitive, reliable, and fast diagnostic test is currently needed. We describe a rapid and highly sensitive seeding conversion assay that detects disease‐associated prion protein in the brain and cerebrospinal fluid in vCJD after 48–96 h of amplification, with 100% sensitivity and specificity. This method can amplify prions from definite, probable, and possible vCJD cases from patients who are either MM or MV at PRNP‐codon 129.
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影响因子：
168.9
作者：
Will, RG;Ironside, JW;Smith, PG
通讯作者：
Smith, PG
影响因子：
12.7
作者：
Ritchie, Diane L.;Barria, Marcelo A.;Head, Mark W.
通讯作者：
Head, Mark W.
影响因子：
3.7
作者：
Belondrade, Maxime;Nicot, Simon;Bougard, Daisy
通讯作者：
Bougard, Daisy
影响因子：
17.1
作者：
Bougard, Daisy;Brandel, Jean-Philippe;Coste, Joliette
通讯作者：
Coste, Joliette
DOI：
10.1136/bmj.f5675
发表时间：
2013-10-15
期刊：
BMJ (Clinical research ed.)
影响因子：
--
作者：
Gill ON;Spencer Y;Richard-Loendt A;Kelly C;Dabaghian R;Boyes L;Linehan J;Simmons M;Webb P;Bellerby P;Andrews N;Hilton DA;Ironside JW;Beck J;Poulter M;Mead S;Brandner S
通讯作者：
Brandner S